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Intellectual disability syndromic and non-syndromic

Gene: DTYMK

Green List (high evidence)

DTYMK (deoxythymidylate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168393
EnsemblGeneIds (GRCh37): ENSG00000168393
OMIM: 188345, Gene2Phenotype
DTYMK is in 5 panels

2 reviews

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Two additional unrelated families with biallelic DTYMK variants. The probands had severe microcephaly, growth retardation and minimal neurodevelopment. Supporting zebrafish model.
Created: 5 May 2022, 1:18 a.m. | Last Modified: 5 May 2022, 1:18 a.m.
Panel Version: 0.4731

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family, two affected sibs with compound het variants reported.
Sources: Literature
Created: 12 Dec 2019, 1:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
OMIM
188345
Clinvar variants
Variants in DTYMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DTYMK were changed from Intellectual disability; microcephaly to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

5 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DTYMK were set to 31271740

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dtymk has been classified as Green List (High Evidence).

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dtymk has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DTYMK was added gene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DTYMK were set to 31271740 Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly Review for gene: DTYMK was set to RED